Haplogroup E1b1b1b (Y-DNA)

Haplogroup E1b1b1b (V257)
Possible time of origin approx 5,600 years BP
Possible place of origin Northwest Africa
Ancestor E1b1b1 (E-M35)
Descendants E1b1b1b1a (E-M107), E1b1b1b1b (E-M183) and within it: E1b1b1b1b1 (E-M165), E1b1b1b1b2 (E-L351)
Defining mutations L19/V257

In human genetics, E1b1b1b (or E-V257), is the name of a major Y chromosome haplogroup mainly found in North Africa (especially Maghreb) and to a lesser extent in Western Asia and Europe. E1b1b1b is dominated by its dominant sub-clade E1b1b1b1 (E-M81), formerly known as E1b1b1b, E3b1b, and E3b2, which was discovered first, and has been more discussed in published literature. V257's discovery was announced in Trombetta et al. (2011).

Contents

Origins

Trombetta et al. (2011) felt that V257 showed a parallel with its sibling clade E-V68 in the way that both clades show signs of having migrated from Africa to southwestern Europe across the Mediterranean sea. They found 6 "E-V257*" individuals in their samples who were E-V257, but not E-M81. A Borana from Kenya, a Marrakesh Berber, a Corsican, a Sardinian, a southern Spaniard and a Cantabrian.

Within E-M35, there are striking parallels between two haplogroups, E-V68 and E-V257. Both contain a lineage which has been frequently observed in Africa (E-M78 and E-M81, respectively) and a group of undifferentiated chromosomes that are mostly found in southern Europe. An expansion of E-M35 carriers, possibly from the Middle East as proposed by other authors, and split into two branches separated by the geographic barrier of the Mediterranean Sea, would explain this geographic pattern. However, the absence of E-V68* and E-V257* in the Middle East makes a maritime spread between northern Africa and southern Europe a more plausible hypothesis.

Its dominant sub-clade E-M81 is thought to have originated in the area of North Africa 5,600 years ago.[1]

Distribution

North Africa

E1b1b1b1 (E-M81) is the most common Y chromosome haplogroup in the Maghreb, dominated by its sub-clade E-M183. This haplogroup reaches a mean frequency of 42% in North Africa, decreasing in frequency from 100% in some isolated Berber populations to approximately 10% to the east of this range in Egypt.[1][2][3] Because of its prevalence among these groups and also others such as Mozabite, Middle Atlas, Kabyle and other Berber groups, it is sometimes referred to as a genetic "Berber marker". Pereira et al. (2010) report high levels amongst Tuareg in two Saharan populations - 77.8% near Gorom-Gorom, in Burkina Faso, and 81.8% from Gosi in Mali. There was a much lower frequency of 11.1% in the vicinity of Tanut in the Republic of Niger.

E-M81 is also quite common among North African Arabic-speaking groups. It is generally found at frequencies around 45% in coastal cities of the Maghreb (Oran, Tunis, Tizi Ouzou, Algiers).[4]

In this key area from Egypt to the Atlantic Ocean, Arredi et al. (2004) report a pattern of decreasing STR haplotype variation (implying greater lineage age in those areas) from East to West, accompanied by a substantial increasing frequency. At the eastern extreme of this core range, Kujanova et al. (2009) found M81 in 28.6% (10 out of 35 men) in El-Hayez in the Western desert in Egypt

Arredi et al. (2004) believe the pattern of distribution and variance to be consistent with the hypothesis of a post Paleolithic "demic diffusion" from the East. The ancestral lineage of E-M81 in their hypothesis could have been linked with the spread of Neolithic food-producing technologies from the Fertile Crescent via the Nile, although pastoralism rather than agriculture. E-M81 and possibly proto-Afroasiatic language may have been carried either all the way from Asia, or they may represent a "local contribution to the North African Neolithic transition". According to Shomarka Keita, a Near Eastern origin of proto-Afroasiatic speakers carrying E-M81, or its ancestral lineage, is inconsistent with the linguistic evidence, which seems to indicate an African origin of Proto-Afro-Asiatic speakers. Keita argues that there is no autochthonous presence of E-M81 in the Near East, indicating that M81 most likely emerged from its parent clade M35 either in the Maghreb, or possibly as far south as the Horn of Africa.[5]

Europe

In Europe, E-M81 is found everywhere but mostly in the Iberian Peninsula, where unlike in the rest of Europe[Note 1] it is more common than E-M78, with an average frequency around 5%. Its frequencies are higher in the western half of the peninsula with frequencies reaching 8% in Extremadura and South Portugal, 9% in Galicia, 10% in Western Andalusia and Northwest Castile and 9% to 17% in Cantabria.[6][7][8][9][10] The highest frequencies of this clade found so far in Europe were observed in the Pasiegos from Cantabria, ranging from 18% (8/45)[10] to 41% (23/56).[11] An average frequency of 8.28% (54/652) has also been reported in the Spanish Canary Islands with frequencies over 10% in the three largest islands of Tenerife (10.68%), Gran Canaria (11.54%) and Fuerteventura (13.33%).[12]

E-M81 is also found in France, 2.70 % (15/555) overall with frequencies surpassing 5% in Auvergne (5/89) and Île-de-France (5/91),[13][14] in Sicily (approximately 2% overall, but up to 7% in Piazza Armerina),[15] and in slightly lower frequencies in continental Italy (especially near Lucera)[9] due to historic colonization during the Islamic, Roman, and Carthaginian empires or ancient migrations in the Metals Ages through maritime means.

Latin America

As a result of Iberian colonization of the Americas, this sub-clade is found throughout Latin America, for example 6.1% in Cuba,[16] 5.4% in Brazil (Rio de Janeiro), [Note 2] and among Hispanic men from California and Hawaii 2.4%.[17]

Others

In smaller numbers, E-M81 men can be found in areas in contact with the Maghreb, both around the Sahara, in places like Sudan, and around the Mediterranean in places like Lebanon, Turkey, and amongst Sephardic Jews.

Distribution

The following gives a summary of most of the studies which specifically tested for E-M81, showing where its distribution is greater than 1% in Europe, North Africa, the Middle East and Latin America.

Country/Region Sampling N % E-M81 Source
Algeria Mozabite Berbers 20 80 Cruciani et al. (2004)
Algeria Oran 102 45.1 Robino et al. (2008)
Algeria Algiers 35 42.9 Arredi et al. (2004)
Algeria Kabyles from Tizi Ouzou 19 47.4 Arredi et al. (2004)
Brazil Rio de Janeiro 112 5.4 Silva et al. (2006)
Burkina Faso Tuaregs 38 77.8 Pereira et al. (2010)
Canary Islands Fuerteventura 75 13.3 Fregel et al. (2009)
Canary Islands Gran Canaria 78 11.5 Fregel et al. (2009)
Canary Islands Tenerife 178 10.7 Fregel et al. (2009)
Canary Islands Lanzarote 97 6.2 Fregel et al. (2009)
Canary Islands La Palma 85 5.9 Fregel et al. (2009)
Canary Islands Gomera 92 4.4 Fregel et al. (2009)
Canary Islands Hierro 47 2.1 Fregel et al. (2009)
Cuba 132 6.1 Mendizabal et al. (2008)
Cyprus Turkish Cypriots 46 8.7 Cruciani et al. (2004)
Egypt Northern Egyptians 21 4.8 Cruciani et al. (2004)
Egypt Western Desert 35 28.6 Kujanová et al. (2009)
Egypt 147 8.2 Flores et al. (2005)
France 85 3.5 Cruciani et al. (2004)
France Auvergne 89 5.6 Ramos-Luisa et al. (2009)
France Île-de-France 91 5.5 Ramos-Luisa et al. (2009)
France Nord-Pas-de-Calais 68 4.4 Ramos-Luisa et al. (2009)
France Provence-Alpes-Côte d'Azur 45 2.2 Ramos-Luisa et al. (2009)
France Midi-Pyrénées 67 1.5 Ramos-Luisa et al. (2009)
Iberia Spain, Portugal 655 5.2 Fregel et al. (2009)
Iberia Spain, Portugal 1140 4.3 Adams et al. (2008)
Israel Bedouins 28 3.6 Cruciani et al. (2004)
Italy Central Italians 89 2.2 Cruciani et al. (2004)
Italy Northern Italians 67 1.5 Cruciani et al. (2004)
Italy North-West Apulia 46 4.3 Capelli et al. (2009)
Italy East Campania 84 2.4 Capelli et al. (2009)
Italy Veneto 55 1.8 Capelli et al. (2009)
Italy North-East Latium 55 1.8 Capelli et al. (2009)
Italy Lucera 60 1.7 Capelli et al. (2009)
Italy Sicily 236 2.1 Gaetano et al. (2008)
Jordania 101 4 Flores et al. (2005)
Lebanon 104 1.9 Flores et al. (2005)
Lebanon 914 1.2 Zalloua et al. (2008)
Libya Tuaregs 47 48.9 Ottoni et al. (2011)
Mali Tuaregs (Gozi) 21 81.8 Pereira et al. (2010)
Morocco Marrakesh Berbers 29 72.4 Cruciani et al. (2004)
Morocco Moyen Atlas Berbers 69 71 Cruciani et al. (2004)
Morocco Moroccan Arabs 54 31.5 Cruciani et al. (2004)
Morocco Marrakesh (Amizmiz Valley) 33 84.8 Alvarez et al. (2009)
Morocco Northern Moroccans (Beni Snassen) 67 79.1 Dugoujon et al. (2005)
Morocco Northern Moroccans (Rhiraya) 54 79.6 Dugoujon et al. (2005)[18]
Morocco Immigrants resident in Italy 51 54.9 Onofri et al. (2008)
Morocco Arabs and Berbers 221 65 Fregel et al. (2009), from Bosh et al 2001
Niger Tuaregs 22 9.1 Cruciani et al. (2004)
Niger Tuaregs 31 11.1 Pereira et al. (2010)
North Africa Sahara 89 59.6 Fregel et al. (2009)
North Africa Algeria, Tunisia 202 39.1 Fregel et al. (2009)
Portugal North 109 5.5 Flores et al. (2004)
Portugal South 49 12.2 Cruciani et al. (2004)
Portugal North 50 4 Cruciani et al. (2004)
Portugal South 78 7.7 Adams et al. (2008)
Portugal North 60 3.3 Adams et al. (2008)
Portugal 303 5.6 Goncalves et al. (2005)
Portugal North 101 6 Goncalves et al. (2005)
Portugal Center 102 4.9 Goncalves et al. (2005)
Portugal South 100 6 Goncalves et al. (2005)
Portugal Madeira 129 5.4 Goncalves et al. (2005)
Portugal Açores 121 5 Goncalves et al. (2005)
Portugal 657 5.6 Beleza et al. (2006)
Portugal Entre Douro e Minho 228 6.6 Beleza et al. (2006)
Portugal Tras os Montes 64 3.1 Beleza et al. (2006)
Portugal Beira Litoral 116 5.2 Beleza et al. (2006)
Portugal Beira Interior 58 5.3 Beleza et al. (2006)
Portugal Estremadura 43 4.6 Beleza et al. (2006)
Portugal Lisboa e Setubal 62 6.5 Beleza et al. (2006)
Portugal Alentejo 65 7.7 Beleza et al. (2006)
Portugal Coruche 64 9.4 Pereira et al. (2010)
Portugal Pias 46 4.3 Pereira et al. (2010)
Portugal Alcacer do Sal 21 4.8 Pereira et al. (2010)
Portugal Tras-os-Montes (Jews) 57 5.3 Nogueiro et al. (2010)
Portugal Tras-os-Montes (Non Jews) 30 10 Nogueiro et al. (2010)
Somalia 201 1.5 Flores et al. (2005)
Spain Pasiegos from Cantabria 19 36.8 Scozzari et al. (2001)
Spain Pasiegos from Cantabria 56 41.1 Cruciani et al. (2004)
Spain Pasiegos from Cantabria 45 17.8 Maca-Meyer et al. (2003)
Spain Spanish Basques 55 3.6 Cruciani et al. (2004)
Spain Asturians 90 2.2 Cruciani et al. (2004)
Spain Southern Spaniards 62 1.6 Cruciani et al. (2004)
Spain Castile, NorthWest 100 10 Adams et al. (2008)
Spain Andalucia, West 73 9.6 Adams et al. (2008)
Spain Galicia 292 4.1 Brion et al. (2004)
Spain Galicia 88 9.1 Adams et al. (2008)
Spain Extremadura 52 7.7 Adams et al. (2008)
Spain Valencia 73 4.1 Adams et al. (2008)
Spain Castile, NorthEast 31 3.2 Adams et al. (2008)
Spain Aragon 34 2.9 Adams et al. (2008)
Spain Minorca 37 2.7 Adams et al. (2008)
Spain Andalucia, East 95 2.1 Adams et al. (2008)
Spain Majorca 62 1.6 Adams et al. (2008)
Spain Castile, La Mancha 63 1.6 Adams et al. (2008)
Spain Catalonia 80 1.3 Adams et al. (2008)
Spain Cantabria 161 13 Capelli et al. (2009)
Spain Malaga 26 11.5 Flores et al. (2004)
Spain Galicia 19 10.5 Flores et al. (2004)
Spain Cantabria 70 8.6 Flores et al. (2004)
Spain Cordoba 27 7.4 Flores et al. (2004)
Spain Valencia 31 6.5 Flores et al. (2004)
Spain Leon 60 5 Flores et al. (2004)
Spain Castile 21 4.8 Flores et al. (2004)
Spain Seville 155 4.5 Flores et al. (2004)
Spain Huelva 22 4.5 Flores et al. (2004)
Spain Basques 45 2.2 Flores et al. (2004)
Spain Huelva 167 3 Ambrosio et al. (2010)
Spain Granada 250 3.6 Ambrosio et al. (2010)
Spain Pedroches Valley 68 1.5 Alvarez et al. (2009)
Spain Andalusians 94 2.1 Alvarez et al. (2009)
Tunisia Tunis 148 37.9 Arredi et al. (2004)
Tunisia Immigrants resident in Italy 52 32.7 Onofri et al. (2008)
Tunisia Berbers from Bou Omrane 40 87.5 Ennafaa et al. (2011)
Tunisia Berbers from Bou Saad 40 92.5 Ennafaa et al. (2011)
Tunisia Jerbian Arabs 46 60.9 Ennafaa et al. (2011)
Tunisia Jerbian Berbers 47 76.6 Ennafaa et al. (2011)
Tunisia Berbers Chenini–Douiret 27 100 Fadhlaoui-Zid et al. (2011)
Tunisia Berbers Sened 35 65.7 Fadhlaoui-Zid et al. (2011)
Tunisia Berbers Jradou 32 100 Fadhlaoui-Zid et al. (2011)
Tunisia Andalusian Zaghouan 32 40.6 Fadhlaoui-Zid et al. (2011)
Tunisia Cosmopolitan Tunis 33 54.4 Fadhlaoui-Zid et al. (2011)
Turkey Istanbul Turkish 35 5.7 Cruciani et al. (2004)
Turkey Sephardi Turkish 19 5.3 Cruciani et al. (2004)
Turkey Southwestern Turkish 40 2.5 Cruciani et al. (2004)
Turkey Northeastern Turkish 41 2.4 Cruciani et al. (2004)

Tree

This phylogenetic tree of haplogroup subclades is based on the YCC 2008 tree and subsequent published research as summarized by ISOGG.[19][20][21]

See also

Evolutionary tree of Human Y-chromosome DNA (Y-DNA) haplogroups

most recent common Y-ancestor
A
A1b A1a-T
A1a A2-T
A2 A3 BT
B CT
DE CF
D E C F
G H IJK
IJ K
I J LT K(xLT)
L T M NO P S
O N Q R

Y-DNA by populations · Famous Y-DNA haplotypes

Notes

  1. ^ Adams et al. (2008), shows an average frequency of 4.3% (49/1140) in the Iberian Peninsula with frequencies reaching 9% in Galicia, 10% in Western Andalusia and Northwest Castile. However this study also includes 153 individuals from Majorca, Minorca and Ibiza islands as well as 24 individuals from Gascony which are not in the Iberian Peninsula. Without these 177 individuals, real average for Iberian Peninsula is 4.9% (47/963) , see table.
  2. ^ (6 out of 112), "The presence of chromosomes of North African origin (E3b1b-M81; Cruciani et al., 2004) can also be explained by a Portuguese-mediated influx, since this haplogroup reaches a frequency of 5.6% in Portugal (Beleza et al., (2006)), quite similar to the frequency found in Rio de Janeiro (5.4%) among European contributors." Silva et al. (2006)
  1. ^ a b Arredi et al. (2004)
  2. ^ Alvarez et al. (2009)
  3. ^ Bosch et al. (2001)
  4. ^ Robino et al. (2008), Arredi et al. (2004)
  5. ^ Keita (2008), "Geography, selected Afro-Asiatic families, and Y chromosome lineage variation", In Hot Pursuit of Language, http://books.google.com/books?hl=en&lr=&id=xxcdjUGfx40C&oi=fnd&pg=PA3 
  6. ^ Adams et al. (2008)
  7. ^ Flores et al. (2005)
  8. ^ Beleza et al. (2006)
  9. ^ a b Capelli et al. (2009)
  10. ^ a b Maca-Meyer N., Sánchez-Velasco P., Flores C. et al., Larruga JM, González AM, Oterino A, Leyva-Cobián F (2003), "Y Chromosome and Mitochondrial DNA Characterization of Pasiegos, a Human Isolate from Cantabria (Spain)", Annals of Human Genetics 67 (Pt 4): 329–339, doi:10.1046/j.1469-1809.2003.00045.x, PMID 12914567. 
  11. ^ Cruciani et al. (2004)
  12. ^ Fregel et al. (2009), Demographic history of Canary Islands male gene-pool: replacement of native lineages by European, see table
  13. ^ Ramos-Luisa et al. (2009)
  14. ^ exluding recent immigration as only men with French surname were analysed
  15. ^ Di Gaetano et al. (2009)
  16. ^ (8 out of 132), Mendizabal et al. (2008)
  17. ^ (7 out of 295), Paracchini et al. (2003)
  18. ^ The Berbers Linguistic and enetic diversity
  19. ^ ISOGG (2008)
  20. ^ Karafet et al. (2008)
  21. ^ Y Chromosome Consortium "YCC" (2002)

References

External links